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Huntigton's Disease

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Sandra Stępień(Exchange student)

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HUNTIGTON'S DISEASE

The cause of Huntington's disease is a mutation on HD gene, which encodes the huntingin protein, located on chromosome 4. The disease is inherited in an autosomal dominant way.
Abnormal protein accumulates in the nerve cells, causing them to die. It is believed that the neurotoxicity of mutant huntingtin protein  is associated with mitochondrial dysfunction, but the exact mechanism of Huntington's chorea is still unknown. Diagnosis is based on clinical symptoms. In imaging studies (CT and MRI), there is a widening of the cerebral ventricular system, with a characteristic ventricular-shaped "side of the butterfly".
Genetic research can give an answer if a patient has a mutated allele of a gene, even before the onset of symptoms. Genetic prenatal tests are also possible.

Huntington's disease is hereditary - it means that it can be passed on to the child by the parent, along with the DNA. As we inherit the chromosomes from both parents, we have in the DNA a total of two copies of each gene - one from the mother, the other from the father. Researchers have discovered that the cause of developing Huntington's disease is one unnaturally long, gene that is found on chromosome four. Because this gene is significantly longer than normal, it causes the symptoms of Huntington's disease. We can therefore say that this gene is "in an extended version". A person suffering from Huntington's disease usually has one elongated gene and one normal. The parent's child with Huntington's disease will inherit from either the elongated or normal gene, and the normal gene from the second, healthy parent. Therefore, the probability of inheriting Huntington's disease is 50%. Whether or not your parent will give you illness is not just a matter of luck, so it is sometimes said that the risk of inheriting Huntington's disease is a coin toss.

The symptoms of Huntington's disease includes: uncontrolled movements (chorea movements), the appearance of trembling hands and feet, Reduction in muscle tone, progressive memory disorder, dementia, personality changes, irritability, apathy, anxiety, Obsessions and Compulsions and psychotic symptoms (hallucinations, delusions). The course is slow and progressing. Over time, there are speech and swallowing disorders, and the patient becomes addicted to the help of other people. Sedentary pneumonia caused by swallowing disorders is the first cause of HD death.

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